TY - JOUR T1 - Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome JF - Journal of Medical Genetics JO - J Med Genet SP - 226 LP - 226 DO - 10.1136/jmedgenet-2015-103249 VL - 53 IS - 4 AU - Katharina Wimmer AU - Laurence Brugières AU - Alex Duval AU - Martine Muleris AU - Christian P Kratz AU - Hans F A Vasen Y1 - 2016/04/01 UR - http://jmg.bmj.com/content/53/4/226.abstract N2 - Homozygous or compound heterozygous, that is, biallelic, germ-line mutations in one of the four mismatch repair (MMR) genes cause a rare condition that has only recently been recognised as a distinct childhood cancer susceptibility syndrome. As such there is still a lack of awareness of the condition among paediatric oncologists. Timely recognition of the condition that results in an extraordinarily high cancer risk also has far-reaching consequences for other family members. It is therefore important that the medical and scientific community reaches agreement on a standard name for this condition, because the use of different names could potentially create confusion. It is for this reason that we … ER -